Linked Data
ClinVar Variation Id:
1353044
ClinVar RCV Id:
RCV002040136
dbSNP Id:
rs778098458
ExAC:
10:17271555 G / A
gnomAD v2:
10-17271555-G-A
gnomAD v4:
10-17229556-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17229556G>A , CM000672.2:g.17229556G>A | GRCh38 |
| NC_000010.10:g.17271555G>A , CM000672.1:g.17271555G>A | GRCh37 |
| NC_000010.9:g.17311561G>A | NCBI36 |
| NG_012413.1:g.6298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544301.7:c.134G>A (VIM) MANE Select | ENSP00000446007.1:p.Arg45His | |
| ENST00000224237.9:c.134G>A (VIM) | ENSP00000224237.5:p.Arg45His | |
| ENST00000478317.5:n.547G>A (VIM) | ||
| ENST00000478746.1:n.443G>A (VIM) | ||
| ENST00000485947.1:n.266G>A (VIM) | ||
| ENST00000487938.5:c.134G>A (VIM) | ENSP00000435613.1:p.Arg45His | |
| ENST00000497849.1:n.440G>A (VIM) | ||
| ENST00000544301.5:c.134G>A (VIM) | ENSP00000446007.1:p.Arg45His | |
| NM_003380.3:c.134G>A (VIM) | NP_003371.2:p.Arg45His | |
| NR_108061.1:n.430C>T (VIM-AS1) | ||
| XM_006717500.1:c.134G>A (VIM) | XP_006717563.1:p.Arg45His | |
| XM_011519649.1:c.134G>A (VIM) | XP_011517951.1:p.Arg45His | |
| NM_003380.4:c.134G>A (VIM) | NP_003371.2:p.Arg45His | |
| XM_006717500.2:c.134G>A (VIM) | XP_006717563.1:p.Arg45His | |
| NM_003380.5:c.134G>A (VIM) MANE Select | NP_003371.2:p.Arg45His |